Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 55 | 388;389;390 | chr2:178802270;178802269;178802268 | chr2:179666997;179666996;179666995 |
| N2AB | 55 | 388;389;390 | chr2:178802270;178802269;178802268 | chr2:179666997;179666996;179666995 |
| N2A | 55 | 388;389;390 | chr2:178802270;178802269;178802268 | chr2:179666997;179666996;179666995 |
| N2B | 55 | 388;389;390 | chr2:178802270;178802269;178802268 | chr2:179666997;179666996;179666995 |
| Novex-1 | 55 | 388;389;390 | chr2:178802270;178802269;178802268 | chr2:179666997;179666996;179666995 |
| Novex-2 | 55 | 388;389;390 | chr2:178802270;178802269;178802268 | chr2:179666997;179666996;179666995 |
| Novex-3 | 55 | 388;389;390 | chr2:178802270;178802269;178802268 | chr2:179666997;179666996;179666995 |
Information
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/H | rs1561527314  |
None | 0.995 | N | 0.586 | 0.49 | 0.400468435593 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | 0.073(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-06 | 0 | 0 |
| Q/R | None | None | 0.868 | N | 0.555 | 0.502 | 0.190952846119 | gnomAD-4.0.0 | 1.5905E-06 | None | None | None | -0.47(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85649E-06 | 0 | 0 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.3062 | likely_benign | 0.3272 | benign | -0.376 | Destabilizing | 0.971 | D | 0.582 | neutral | None | None | None | -0.202(TCAP) | N |
| Q/C | 0.9262 | likely_pathogenic | 0.9203 | pathogenic | 0.024 | Stabilizing | 0.999 | D | 0.723 | prob.delet. | None | None | None | 0.079(TCAP) | N |
| Q/D | 0.474 | ambiguous | 0.5298 | ambiguous | 0.029 | Stabilizing | 0.834 | D | 0.516 | neutral | None | None | None | 0.003(TCAP) | N |
| Q/E | 0.1024 | likely_benign | 0.109 | benign | 0.078 | Stabilizing | 0.123 | N | 0.172 | neutral | N | 0.460837066 | None | -0.043(TCAP) | N |
| Q/F | 0.824 | likely_pathogenic | 0.8287 | pathogenic | -0.229 | Destabilizing | 0.998 | D | 0.701 | prob.neutral | None | None | None | -0.34(TCAP) | N |
| Q/G | 0.4685 | ambiguous | 0.4962 | ambiguous | -0.667 | Destabilizing | 0.985 | D | 0.582 | neutral | None | None | None | -0.225(TCAP) | N |
| Q/H | 0.2926 | likely_benign | 0.3187 | benign | -0.427 | Destabilizing | 0.995 | D | 0.586 | neutral | N | 0.509155422 | None | 0.073(TCAP) | N |
| Q/I | 0.4883 | ambiguous | 0.4961 | ambiguous | 0.333 | Stabilizing | 0.997 | D | 0.708 | prob.delet. | None | None | None | -0.14(TCAP) | N |
| Q/K | 0.1366 | likely_benign | 0.1419 | benign | -0.104 | Destabilizing | 0.805 | D | 0.537 | neutral | N | 0.490390872 | None | -0.498(TCAP) | N |
| Q/L | 0.2243 | likely_benign | 0.2279 | benign | 0.333 | Stabilizing | 0.953 | D | 0.576 | neutral | N | 0.505224581 | None | -0.14(TCAP) | N |
| Q/M | 0.4854 | ambiguous | 0.4773 | ambiguous | 0.497 | Stabilizing | 0.997 | D | 0.587 | neutral | None | None | None | 0.654(TCAP) | N |
| Q/N | 0.3627 | ambiguous | 0.3755 | ambiguous | -0.602 | Destabilizing | 0.953 | D | 0.552 | neutral | None | None | None | -0.701(TCAP) | N |
| Q/P | 0.779 | likely_pathogenic | 0.8119 | pathogenic | 0.128 | Stabilizing | 0.994 | D | 0.637 | neutral | D | 0.600552583 | None | -0.158(TCAP) | N |
| Q/R | 0.1502 | likely_benign | 0.1661 | benign | -0.005 | Destabilizing | 0.868 | D | 0.555 | neutral | N | 0.452537385 | None | -0.47(TCAP) | N |
| Q/S | 0.2995 | likely_benign | 0.3247 | benign | -0.653 | Destabilizing | 0.971 | D | 0.526 | neutral | None | None | None | -0.713(TCAP) | N |
| Q/T | 0.227 | likely_benign | 0.2484 | benign | -0.418 | Destabilizing | 0.724 | D | 0.605 | neutral | None | None | None | -0.672(TCAP) | N |
| Q/V | 0.3313 | likely_benign | 0.341 | ambiguous | 0.128 | Stabilizing | 0.966 | D | 0.577 | neutral | None | None | None | -0.158(TCAP) | N |
| Q/W | 0.7723 | likely_pathogenic | 0.7899 | pathogenic | -0.138 | Destabilizing | 1.0 | D | 0.726 | prob.delet. | None | None | None | -0.376(TCAP) | N |
| Q/Y | 0.6615 | likely_pathogenic | 0.6717 | pathogenic | 0.089 | Stabilizing | 0.998 | D | 0.679 | prob.neutral | None | None | None | -0.226(TCAP) | N |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.